LOCUS       NM_004287               3932 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens golgi SNAP receptor complex member 2 (GOSR2),
            transcript variant A, mRNA.
ACCESSION   NM_004287
VERSION     NM_004287.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3932)
  AUTHORS   Hentrich,L., Parnes,M., Lotze,T.E., Coorg,R., de Koning,T.J.,
            Nguyen,K.M., Yip,C.K., Jungbluth,H., Koy,A. and Dafsari,H.S.
  TITLE     Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive
            Myoclonus Epilepsy
  JOURNAL   Genes (Basel) 14 (10), 1860 (2023)
   PUBMED   37895210
  REMARK    GeneRIF: Novel Genetic and Phenotypic Expansion in GOSR2-Related
            Progressive Myoclonus Epilepsy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3932)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3932)
  AUTHORS   Yu,M., Tcheandjieu,C., Georges,A., Xiao,K., Tejeda,H., Dina,C., Le
            Tourneau,T., Fiterau,M., Judy,R., Tsao,N.L., Amgalan,D.,
            Munger,C.J., Engreitz,J.M., Damrauer,S.M., Bouatia-Naji,N. and
            Priest,J.R.
  TITLE     Computational estimates of annular diameter reveal genetic
            determinants of mitral valve function and disease
  JOURNAL   JCI Insight 7 (3), e146580 (2022)
   PUBMED   35132965
  REMARK    GeneRIF: Computational estimates of annular diameter reveal genetic
            determinants of mitral valve function and disease.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3932)
  AUTHORS   Donkervoort,S., Krause,N., Dergai,M., Yun,P., Koliwer,J.,
            Gorokhova,S., Geist Hauserman,J., Cummings,B.B., Hu,Y., Smith,R.,
            Uapinyoying,P., Ganesh,V.S., Ghosh,P.S., Monaghan,K.G.,
            Edassery,S.L., Ferle,P.E., Silverstein,S., Chao,K.R., Snyder,M.,
            Ellingwood,S., Bharucha-Goebel,D., Iannaccone,S.T., Dal Peraro,M.,
            Foley,A.R., Savas,J.N., Bolduc,V., Fasshauer,D., Bonnemann,C.G. and
            Schwake,M.
  TITLE     BET1 variants establish impaired vesicular transport as a cause for
            muscular dystrophy with epilepsy
  JOURNAL   EMBO Mol Med 13 (12), e13787 (2021)
   PUBMED   34779586
REFERENCE   5  (bases 1 to 3932)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 3932)
  AUTHORS   Xu,D., Joglekar,A.P., Williams,A.L. and Hay,J.C.
  TITLE     Subunit structure of a mammalian ER/Golgi SNARE complex
  JOURNAL   J Biol Chem 275 (50), 39631-39639 (2000)
   PUBMED   11035026
REFERENCE   7  (bases 1 to 3932)
  AUTHORS   Bui,T.D., Levy,E.R., Subramaniam,V.N., Lowe,S.L. and Hong,W.
  TITLE     cDNA characterization and chromosomal mapping of human golgi SNARE
            GS27 and GS28 to chromosome 17
  JOURNAL   Genomics 57 (2), 285-288 (1999)
   PUBMED   10198168
REFERENCE   8  (bases 1 to 3932)
  AUTHORS   Hay,J.C., Klumperman,J., Oorschot,V., Steegmaier,M., Kuo,C.S. and
            Scheller,R.H.
  TITLE     Localization, dynamics, and protein interactions reveal distinct
            roles for ER and Golgi SNAREs
  JOURNAL   J Cell Biol 141 (7), 1489-1502 (1998)
   PUBMED   9647643
  REMARK    Erratum:[J Cell Biol 1998 Aug 10;142(3):following 881]
REFERENCE   9  (bases 1 to 3932)
  AUTHORS   Lowe,S.L., Peter,F., Subramaniam,V.N., Wong,S.H. and Hong,W.
  TITLE     A SNARE involved in protein transport through the Golgi apparatus
  JOURNAL   Nature 389 (6653), 881-884 (1997)
   PUBMED   9349823
REFERENCE   10 (bases 1 to 3932)
  AUTHORS   Hay,J.C., Chao,D.S., Kuo,C.S. and Scheller,R.H.
  TITLE     Protein interactions regulating vesicle transport between the
            endoplasmic reticulum and Golgi apparatus in mammalian cells
  JOURNAL   Cell 89 (1), 149-158 (1997)
   PUBMED   9094723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009710.2, AF229796.1,
            AC005670.1, BM353858.1 and AA775225.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_004287.4.
            
            Summary: This gene encodes a trafficking membrane protein which
            transports proteins among the medial- and trans-Golgi compartments.
            Due to its chromosomal location and trafficking function, this gene
            may be involved in familial essential hypertension. [provided by
            RefSeq, Mar 2016].
            
            Transcript Variant: This variant (A) represents the longest
            transcript and encodes isoform A.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.12330.1,
                                           SRR11853559.14409.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000640051.2/ ENSP00000492751.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BC009710.2         15-35
            22-510              AF229796.1         20-508
            511-3096            AC005670.1         44606-47191
            3097-3579           BM353858.1         1-483
            3580-3932           AA775225.1         14-366              c
FEATURES             Location/Qualifiers
     source          1..3932
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..3932
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /note="golgi SNAP receptor complex member 2"
                     /db_xref="GeneID:9570"
                     /db_xref="HGNC:HGNC:4431"
                     /db_xref="MIM:604027"
     exon            1..62
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..672
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /note="isoform A is encoded by transcript variant A;
                     membrin; 27 kDa Golgi SNARE protein"
                     /codon_start=1
                     /product="Golgi SNAP receptor complex member 2 isoform A"
                     /protein_id="NP_004278.2"
                     /db_xref="CCDS:CCDS42355.1"
                     /db_xref="GeneID:9570"
                     /db_xref="HGNC:HGNC:4431"
                     /db_xref="MIM:604027"
                     /translation="MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQI
                     FSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQRE
                     ELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
                     TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT"
     exon            63..127
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     exon            128..236
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     exon            237..369
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     exon            370..510
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     exon            511..3932
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3907..3912
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /note="hexamer: AATAAA"
     polyA_site      3932
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /note="major polyA site"
ORIGIN      
        1 agagccggag ccgtggcctg cggggccggc gacatggatc ccctgttcca gcaaacgcac
       61 aagcaggtcc acgagatcca gtcttgcatg ggacgcctgg agacggcaga caagcagtct
      121 gtgcacatag tagaaaacga aatccaagca agcatagacc agatattcag ccgtctagaa
      181 cgtctggaga ttttgtccag caaggagccc cctaacaaaa ggcaaaatgc cagacttcgg
      241 gttgaccagt taaagtatga tgtccagcac ctgcagactg cgctcagaaa cttccagcat
      301 cggcgccatg caagggagca gcaggagaga cagcgagaag agcttctgtc tcgaaccttc
      361 accactaacg actctgacac caccatacca atggacgaat cactgcagtt taactcctcc
      421 ctccagaaag ttcacaacgg catggatgac ctcattttag atgggcacaa tattttagat
      481 ggactgagga cccagagact gaccttgaag gggactcaga agaagatcct tgacattgcc
      541 aacatgctgg gcttgtccaa cacagtgatg cggctcatcg agaagcgggc tttccaggac
      601 aagtacttta tgataggtgg gatgctgctg acctgtgtgg tcatgttcct cgtggtgcag
      661 tacctgacat gagccagcca cgctcagtgg ctgaacagca ttcccacagc ctgcaagtgt
      721 gtgtgtgtgt gaaagagaga ggggggccca gaggccgcct tttgaaatgt ttgcctgtct
      781 gaactgtgaa gacacttggg agtgattgtg gtctaatttc caacctgctc tgttttctgt
      841 gacatcttgg agggggagct agtgccacca ccatgcgcgg tgcttaggaa atgaaagaag
      901 tcccgggtct gtctctctca ctctcgctct cactggggga gggaaagaat ggctttggtg
      961 gctttgttca catagctgat gcgtgccctg ggaaggtgtc cacagtgagc cctgtgtgca
     1021 ggactgtcca cacggttcac accttgtcac catcaggcct ttctggctcc tgatagggtg
     1081 gagcaaaagt ggaaaggaaa ggaaagaggc cttttctcac agccattata ttaaatagta
     1141 ggtcgattca catcctcgtg ctcctggcca ccctcccctg tgcctcagtg acatgtagat
     1201 gactgactgc caatacttgt caccattccc tggaagcagc tacctagggg aaacaagatg
     1261 tagtgctatt gccgataaca agtaagattt tccacactac agctgggtgt ttctcttttc
     1321 taaagtgagg ccagtgttat ttcccgggag tgttcagtct tgaccctagt cactgatttt
     1381 ttctagttgt taatagagtg gttggctttt aaggttcaga gactgtggct tggcacctgc
     1441 gcccaggctt tgtgggcctt tgccccttag aaagtagctg taggcaaaga tttgtgattt
     1501 tccaattaca gtctcagctc tagttttagt atctctaatt ctttggttcc cttctcttcc
     1561 ctgaaatata ttagcacctg ccagccaggc cctcattttg cccagccagt gtgggcagat
     1621 cccaccgtgg agacatctgt agtgtgtatg tccttgtaac actctgtttt cagggactac
     1681 aacctttttc cttctgtgac cagccccgga ttcaggctgt actaatacca ggtatattgt
     1741 ggaatttagt ataaaggcca atctgtcctg aagtccatct aatgtggtga atcactgaaa
     1801 gtctcagaaa gacctggtta gtgtatgttc tcatttacca caggcctacc agccctgggc
     1861 acagcagctt catggcaaga cataaaatga cactcaaaat ccttcagatc tggaaaccgg
     1921 ctcagtatta accctacctt tggttgtcct gccctacctg ctctgttagt ttcttgttgc
     1981 ttgaactgtc ttctgtctta tttcccttcc tttctgtgtt cctcttcacc tctcttgttc
     2041 ccctccccgc tgctctgtag tcatgttggt cctttcaggc acctctgtgg catagctccc
     2101 ctttggtaag ttttcttaat tgtcatagat taactgagtt tcctggatgc taatttcaca
     2161 ctttcggttg gaggagatct ccattgttcc tacccctccg ggccaaatgg gccccaggtt
     2221 tccaaggaag gagcaatctg tgactcctaa aatgggttgg ggccctgcca gagttaaagc
     2281 agtgactgga gggtggactg gggggttgca gcatctttag acctagatct gtctaactct
     2341 ggggaggcac attgacattt ccattacaca cagcactgct gcggtgccag ggacctagcg
     2401 caggactttt ggtaatccat aaaatggatt ctgagactgc gacggcaagg ctgtcctgtc
     2461 ccccaggcac ccaaggatcc tgccagacag cacactttgg aggaaggtct gcagggagca
     2521 gctgagccat ttgttcttga actctgggag gcagaagtcc ccgcacccat catgcgtgga
     2581 ctgataggac atcttttcgt ggtgtgcacc agtgctttcc acacttgaca gtggttggct
     2641 ttgatgaacc ctcatgctgc accttcagag ccagtcctct agtttggaat aaaaattgca
     2701 gaggtggttt ttgggtcttt accacctgcg gctggtggac agcagccagt gtgtctggac
     2761 acccaggggc attgagactg catgttgtca catgaccact tctcttcaca catctgcttt
     2821 cagtgcctgg tgaaaaatag accttggcct aacagtgtga ctctctccac cgcctcagtg
     2881 tagggaaggg tccaggccag ggaaggagca ccctctagtg gaggcggggg tgaattctta
     2941 ggtcgagctg atgcaagaaa ctccggtagc cagcctctgt gaccttgtac atgagtttgg
     3001 tgtgcctatt gtgatttaaa acaggtgggt tatcaagagg aacttgagat ctctttatta
     3061 catggacatt tacttcaggg ggaccactgt aagaaaagcc aaactccaag accaagtaag
     3121 ttagaggagt cttgattttt tagacttcac tgcggagttc tgtacaccct ttgccctgat
     3181 gaatttgaat gggtttgatt tgcaaatttg gatttacacc cattgttttg gaagcacatc
     3241 agctgaataa agttgaggtt tattttattt agaaaatcac attttgtaaa agaattcgat
     3301 attcattttt ataactaatg gccccctttt tttatgtttc taggccagag attctcaaac
     3361 actgctccat ggccaggggc tgggctggct gcttcagaag cagtggggaa gctttttaaa
     3421 attacatatt cctggggcct accccagatc tgaattagaa ccttttttaa atctctaagg
     3481 tgattttatt ttatttttta tttttgagac agtctcgctc tgtcacccag gctggagtgc
     3541 agtggcgcaa tcttggctca ctgcatcctc tgcctcctgg gttcaggtga tcctcatacc
     3601 tcagcctcct gagtagctgg aactacaagt gtgtgccacc atgtctggct aatttttttt
     3661 ttttttttgt attttttagt agagacaggg ttttactatg ttgaccagat tggtcttaaa
     3721 ctcctggcct caagtgatct gcctgcttcg gcctcccaaa gttctagggt tacaggtgtt
     3781 agccactgta cctggcctct aaggtgattc tgatgtgtgt attttggaac cactgtctcc
     3841 tagacagaaa gcttctgtct caaagatgat cacattggtg taaagagcaa aacttgttaa
     3901 gtccaaaata aattcttact gtttatatcc ta
//
